Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420543A>T , CM000666.2:g.99420543A>T | GRCh38 |
| NC_000004.11:g.100341700A>T , CM000666.1:g.100341700A>T | GRCh37 |
| NC_000004.10:g.100560723A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.815T>A MANE Select | ENSP00000414254.2:p.Leu272His | |
| ENST00000209665.8:c.851T>A | ENSP00000209665.4:p.Leu284His | |
| ENST00000437033.6:c.815T>A | ENSP00000414254.2:p.Leu272His | |
| ENST00000476959.5:c.875T>A | ENSP00000420269.1:p.Leu292His | |
| ENST00000482593.5:c.644T>A | ENSP00000420613.1:p.Leu215His | |
| NM_000673.4:c.851T>A | NP_000664.2:p.Leu284His | |
| NM_001166504.1:c.875T>A | NP_001159976.1:p.Leu292His | |
| NM_000673.7:c.815T>A MANE Select | NP_000664.3:p.Leu272His | |
| NM_001166504.2:c.875T>A | NP_001159976.1:p.Leu292His |